A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530960



Internal ID306928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16149903..16150220hg38UCSC Ensembl
chr21:17522223..17522540hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734129
Samples
Known GenesLINC00478
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530960
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer